Canonical Allele Identifier: CA2573147113

Gene: HBB

Linked Data

• ClinVar Variation Id: 1573923
• ClinVar RCV Id: RCV002073435
• dbSNP Id: rs2133586752

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225938T>G , CM000673.2:g.5225938T>G	GRCh38
NC_000011.9:g.5247168T>G , CM000673.1:g.5247168T>G	GRCh37
NC_000011.8:g.5203744T>G	NCBI36
NG_000007.3:g.71678A>C
NG_059281.1:g.6134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-212A>C	ENSP00000494175.1:n.316-212A>C
ENST00000335295.4:c.316-212A>C MANE Select	ENSP00000333994.3:n.316-212A>C
ENST00000475226.1:n.248-212A>C
ENST00000633227.1:c.*132-212A>C	ENSP00000488004.1:n.*132-212A>C
NM_000518.4:c.316-212A>C	NP_000509.1:n.316-212A>C
NM_000518.5:c.316-212A>C MANE Select	NP_000509.1:n.316-212A>C